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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Oct 7, 2024. (Total: 232297Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Recurrence and IQSEC2[original query]
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
American journal of medical genetics. Part A 2015 Sep 167 (9): 2017-25.
Olson Heather E, Tambunan Dimira, LaCoursiere Christopher, Goldenberg Marti, Pinsky Rebecca, Martin Emilie, Ho Eugenia, Khwaja Omar, Kaufmann Walter E, Poduri Annapur
Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.
European journal of medical genetics 2019 8 63 (3): 103735.
Barrie Elizabeth S, Cottrell Catherine E, Gastier-Foster Julie, Hickey Scott E, Patel Anup D, Santoro Stephanie L, Alfaro Maria
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